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https://www.readbyqxmd.com/read/29907612/predicting-human-genes-susceptible-to-genomic-instability-associated-with-alu-alu-mediated-rearrangements
#1
Xiaofei Song, Christine R Beck, Renqian Du, Ian M Campbell, Zeynep Coban-Akdemir, Shen Gu, Amy M Breman, Pawel Stankiewicz, Grzegorz Ira, Chad A Shaw, James R Lupski
Alu elements, the short interspersed element numbering >1 million copies per human genome, can mediate the formation of copy number variants (CNVs) between substrate pairs. These Alu/Alu-mediated rearrangements (AAMR) can result in pathogenic variants that cause diseases. To investigate the impact of AAMR on gene variation and human health, we first characterized Alus that are involved in mediating CNVs (CNV-Alus) and observed that these Alus tend to be evolutionarily younger. We then computationally generated, with the assistance of a supercomputer, a test dataset consisting of 78 million Alu pairs and predicted ~18% of them are potentially susceptible to AAMR...
June 15, 2018: Genome Research
https://www.readbyqxmd.com/read/29902261/pik3ca-copy-number-aberration-and-activation-of-the-pi3k-akt-mtor-pathway-in-varied-disease-states-of-penile-cancer
#2
Anthony Adimonye, Elzbieta Stankiewicz, Susannah La-Touche, Sakunthala Kudahetti, Giorgia Trevisan, Brendan Tinwell, Cathy Corbishley, Yong-Jie Lu, Nick Watkin, Daniel Berney
BACKGROUND: Therapeutic targeting of the PI3K-AKT-mTOR pathway may benefit patients with advanced penile squamous cell carcinoma (PSCC). OBJECTIVES: To determine the prevalence of PIK3CA copy number gain and correlate this with the activity status of PI3K-AKT-mTOR pathway in pre-malignant penile intraepithelial neoplasia (PeIN) and invasive PSCC. MATERIALS AND METHODS: Archival tissue blocks were obtained from 58 PeIN and 244 primary PSCC patients treated at St George's Hospital...
2018: PloS One
https://www.readbyqxmd.com/read/29882224/has-4d-transperineal-ultrasound-additional-value-over-2d-transperineal-ultrasound-for-diagnosing-obstructed-defaecation-syndrome
#3
I M A van Gruting, K Kluivers, A H Sultan, R De Bin, A Stankiewicz, H Blake, R Thakar
OBJECTIVE: To establish the diagnostic test accuracy of both two-dimensional (2D) and four-dimensional (4D) transperineal ultrasound, to assess if 4D ultrasound imaging provides additional value in the diagnosis of posterior pelvic floor disorders in women with obstructed defaecation syndrome. METHODS: In this prospective cohort study, 121 consecutive women with obstructed defaecation syndrome were recruited. Symptoms of obstructed defaecation and signs of pelvic organ prolapse were assessed using validated methods...
June 8, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29861391/ubiquitination-of-abce1-by-not4-in-response-to-mitochondrial-damage-links-co-translational-quality-control-to-pink1-directed-mitophagy
#4
Zhihao Wu, Yan Wang, Junghyun Lim, Boxiang Liu, Yanping Li, Rasika Vartak, Trisha Stankiewicz, Stephen Montgomery, Bingwei Lu
Translation of mRNAs is tightly regulated and constantly surveyed for errors. Aberrant translation can trigger co-translational protein and RNA quality control processes, impairments of which cause neurodegeneration by still poorly understood mechanism(s). Here we show that quality control of translation of mitochondrial outer membrane (MOM)-localized mRNA intersects with the turnover of damaged mitochondria, both orchestrated by the mitochondrial kinase PINK1. Mitochondrial damage causes stalled translation of complex-I 30 kDa subunit (C-I30) mRNA on MOM, triggering the recruitment of co-translational quality control factors Pelo, ABCE1, and NOT4 to the ribosome/mRNA-ribonucleoprotein complex...
May 18, 2018: Cell Metabolism
https://www.readbyqxmd.com/read/29847313/exploring-and-improving-student-engagement-in-an-accelerated-undergraduate-nursing-program-through-a-mentoring-partnership-an-action-research-study
#5
Marguerite Bramble, Hazel Maxwell, Rochelle Einboden, Sally Farington, Richard Say, Chin Liang Beh, Grace Stankiewicz, Graham Munro, Esther Marembo, Greg Rickard
This Participatory Action Research (PAR) project aimed to engage students from an accelerated 'fast track' nursing program in a mentoring collaboration, using an interdisciplinary partnership intervention with a group of academics. Student participants represented the disciplines of nursing and paramedicine with a high proportion of culturally and linguistically diverse (CALD) students. Nine student mentors were recruited and paired with academics for a three-month 'mentorship partnership' intervention. Data from two pre-intervention workshops and a post-intervention workshop were coded in NVivo11 using thematic analysis...
May 30, 2018: International Journal of Nursing Education Scholarship
https://www.readbyqxmd.com/read/29775444/-influence-of-intensity-localization-and-type-of-deposits-in-renal-biopsy-for-disease-symptoms-and-follow-up-in-children-with-iga-nephropathy
#6
Karolina Cichoń-Kawa, Małgorzata Mizerska-Wasiak, Jadwiga Małdyk, Agnieszka Turczyn, Agnieszka Rybi-Szumińska, Anna Wasilewska, Agnieszka Firszt-Adamczyk, Roman Stankiewicz, Beata Bieniaś, Przemysław Sikora, Katarzyna Gadomska-Prokop, Ryszard Grenda, Małgorzata Pańczyk-Tomaszewska
IgA nephropathy is the most common glomerulonephritis in the world. For diagnosis kidney biopsy is necessary. AIM: The aim of the study was assessment the significance of IgA, C3 and IgG deposits intensity and location in kidney childhood IgA nephropathy (IgAN) for the symptoms of the disease and the follow up. MATERIALS AND METHODS: Study population consisted of 81 children, average 11,45±3,99 years. IgAN was recognized based on renal biopsy, performed 1,2±1,84, median 0,5 years after the onset...
April 23, 2018: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29761170/nicotinamide-adenine-dinucleotide-phosphate-reduced-oxidase-2-modulates-inflammatory-vigor-during-nonalcoholic-fatty-liver-disease-progression-in-mice
#7
Rajib Mukherjee, Maria E Moreno-Fernandez, Daniel A Giles, Monica Cappelletti, Traci E Stankiewicz, Calvin C Chan, Senad Divanovic
Nonalcoholic fatty liver disease (NAFLD) represents a disease spectrum ranging from benign steatosis to life-threatening cirrhosis and hepatocellular carcinoma. Elevated levels of reactive oxygen species (ROS) and exacerbated inflammatory responses have been implicated in NAFLD progression. Nicotinamide adenine dinucleotide phosphate (reduced) oxidase 2 (NOX2; also known as gp91Phox ), the main catalytic subunit of the nicotinamide adenine dinucleotide phosphate (reduced) oxidase complex, modulates ROS production, immune responsiveness, and pathogenesis of obesity-associated metabolic derangements...
May 2018: Hepatology Communications
https://www.readbyqxmd.com/read/29742634/successful-implementation-of-an-alcohol-screening-brief-intervention-and-referral-to-treatment-program
#8
Eric Zimmermann, Jason M Sample, Mary Ellen Zimmermann, Francesca Sullivan, Sarah Stankiewicz, Pierre Saldinger
Devastating effects of alcohol are well established in trauma. To address this, thve American College of Surgeons Committee on Trauma (ACS-COT) requires ACS-verified Level 1 trauma centers to have an active screening, brief intervention, and referral to treatment (SBIRT) program. In 2015, NewYork-Presbyterian/Queens successfully implemented an SBIRT program. Previous studies indicate difficulty in achieving a high level of SBIRT compliance. We explored the effects of a multidisciplinary approach in implementing a standardized screening protocol for every trauma-activated patient 15 years or older...
May 2018: Journal of Trauma Nursing: the Official Journal of the Society of Trauma Nurses
https://www.readbyqxmd.com/read/29713204/efficacy-and-patient-satisfaction-after-novasure-and-minerva-endometrial-ablation-for-treating-abnormal-uterine-bleeding-a-retrospective-comparative-study
#9
Constantine Scordalakes, Robert delRosario, Andrew Shimer, Russell Stankiewicz
Objective: Compare amenorrhea rate, menstrual symptoms, patient satisfaction, and adverse events in women who underwent endometrial ablation with the NovaSure versus the Minerva radiofrequency ablation systems. Methods: We surveyed 189 premenopausal women (mean 40.8±6.2 years old) who underwent endometrial ablation for abnormal uterine bleeding using the NovaSure (n=97) or Minerva (n=92) systems, at four private US gynecology clinics, and whose procedure date was after July 2015 with follow-up ≥3 months...
2018: International Journal of Women's Health
https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#10
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29679417/a-probiotic-modulates-the-microbiome-and-immunity-in-multiple-sclerosis
#11
Stephanie K Tankou, Keren Regev, Brian C Healy, Emily Tjon, Luca Laghi, Laura M Cox, Pia Kivisäkk, Isabelle V Pierre, Lokhande Hrishikesh, Roopali Gandhi, Sandra Cook, Bonnie Glanz, James Stankiewicz, Howard L Weiner
OBJECTIVE: Effect of a probiotic on the gut microbiome and peripheral immune function in healthy controls and relapsing-remitting multiple sclerosis (MS) patients. METHODS: MS patients (N = 9) and controls (N = 13) were orally administered a probiotic containing Lactobacillus, Bifidobacterium, and Streptococcus twice-daily for two months. Blood and stool specimens were collected at baseline, after completion of the 2-month treatment, and 3 months after discontinuation of therapy...
April 20, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29662627/analysis-of-the-pi3k-akt-mtor-pathway-in-penile-cancer-evaluation-of-a-therapeutically-targetable-pathway
#12
Anthony Adimonye, Elzbieta Stankiewicz, Sakunthala Kudahetti, Giorgia Trevisan, Brendan Tinwell, Cathy Corbishley, Yong-Jie Lu, Nick Watkin, Daniel Berney
Objectives: To determine whether phosphatidylinositol-4,5-bisphosphate 3- kinase, catalytic subunit alpha (PIK3CA) copy number gain is common and could prove a useful marker for the activation status of the PI3K-AKT-mTOR pathway in penile squamous cell carcinoma (PSCC). Methods: Fresh frozen tissue and archival blocks were collected from 24 PSCC patients with 15 matched normal penile epithelium (NPE) tissue from St George's Hospital. PIK3CA mutational and copy number status (CNS) was assessed via Sanger sequencing and fluorescence in-situ hybridisation, respectively...
March 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29659149/exploring-the-effect-of-previous-inactivated-influenza-vaccination-on-seasonal-influenza-vaccine-effectiveness-against-medically-attended-influenza-results-of-the-european-i-move-multicentre-test-negative-case-control-study-2011-2012-2016-2017
#13
Marta Valenciano, Esther Kissling, Amparo Larrauri, Baltazar Nunes, Daniela Pitigoi, Joan O'Donnell, Annicka Reuss, Judit Krisztina Horváth, Iwona Paradowska-Stankiewicz, Caterina Rizzo, Alessandra Falchi, Isabelle Daviaud, Mia Brytting, Adam Meijer, Bernard Kaic, Alin Gherasim, Ausenda Machado, Alina Ivanciuc, Lisa Domegan, Brunhilde Schweiger, Annamária Ferenczi, Monika Korczyńska, Antonino Bella, Ana-Maria Vilcu, Anne Mosnier, Katherina Zakikhany, Marit de Lange, Sanja Kurečić Filipovićović, Kari Johansen, Alain Moren
BACKGROUND: Results of previous influenza vaccination effects on current season influenza vaccine effectiveness (VE) are inconsistent. OBJECTIVES: To explore previous influenza vaccination effects on current season VE among population targeted for vaccination. METHODS: We used 2011/2012 to 2016/2017 I-MOVE primary care multicentre test-negative data. For each season, we compared current season adjusted VE (aVE) between individuals vaccinated and unvaccinated in previous season...
April 16, 2018: Influenza and Other Respiratory Viruses
https://www.readbyqxmd.com/read/29655928/effects-of-3-months-sitting-callisthenic-balance-and-resistance-exercise-on-aerobic-capacity-aortic-stiffness-and-body-composition-in-healthy-older-participants-randomized-controlled-trial
#14
Sławomir Kujawski, Agnieszka Kujawska, Małgorzata Gajos, Jacek J Klawe, Małgorzata Tafil-Klawe, Katarzyna Mądra-Gackowska, Błażej Stankiewicz, Julia L Newton, Kornelia Kędziora-Kornatowska, Paweł Zalewski
BACKGROUND: Arterial stiffness (AS) is a reduction in the ability of large arteries to readily accommodate the increase in blood ejected from the heart during systole related with aging. Physical exercise is associated with AS reduction. However, it remains controversial as to which modality and intensity (resistance vs aerobic, high vs low) would be the most effective. The aim of these studies is to examine the effects of 3-months sitting callisthenic balance (SCB) and resistance exercise (RET) on aerobic capacity, aortic stiffness and body composition in older participants...
July 15, 2018: Experimental Gerontology
https://www.readbyqxmd.com/read/29643958/outcomes-and-complications-of-self-expanding-metal-stent-placement-for-malignant-colonic-obstruction-in-a-single-center-study
#15
Rafał Stankiewicz, Sławomir Kozieł, Jan Pertkiewicz, Krzysztof Zieniewicz
Introduction: Approximately 20% of cases of colorectal cancer are accompanied by acute colonic obstruction. While emergency colonic surgery is associated with high mortality and morbidity rates, placement of a self-expanding metal stent (SEMS) has been suggested as an alternative method. The SEMS placement can serve as either a definitive treatment in palliative cases or a bridge to surgery. Aim: To summarize the experience of our center in the treatment of malignant colonic obstruction using SEMS placement...
March 2018: Wideochirurgia i Inne Techniki Mało Inwazyjne, Videosurgery and Other Miniinvasive Techniques
https://www.readbyqxmd.com/read/29569073/impact-of-colorectal-surgeon-case-volume-on-outcomes-and-applications-to-quality-improvement
#16
David Yi, John R T Monson, Cathy C Stankiewicz, Sam Atallah, Neil J Finkler
PURPOSE: To evaluate the impact of surgeon case volumes on procedural, financial, and clinical outcomes in colorectal surgery and apply findings to improve hospital care quality. METHODS: A retrospective review was performed using 2013-2014 administrative data from a large hospital system in Southeast U.S. region; univariate and multivariable regression analyses were used to explore the impact of surgeon case volume on outcomes. RESULTS: One thousand one hundred ninety patients were included in this 2-year study...
May 2018: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/29563328/peroxisomal-%C3%AE-oxidation-regulates-whole-body-metabolism-inflammatory-vigor-and-pathogenesis-of-nonalcoholic-fatty-liver-disease
#17
Maria E Moreno-Fernandez, Daniel A Giles, Traci E Stankiewicz, Rachel Sheridan, Rebekah Karns, Monica Cappelletti, Kristin Lampe, Rajib Mukherjee, Christian Sina, Anthony Sallese, James P Bridges, Simon P Hogan, Bruce J Aronow, Kasper Hoebe, Senad Divanovic
Nonalcoholic fatty liver disease (NAFLD), a metabolic predisposition for development of hepatocellular carcinoma (HCC), represents a disease spectrum ranging from steatosis to steatohepatitis to cirrhosis. Acox1, a rate-limiting enzyme in peroxisomal fatty acid β-oxidation, regulates metabolism, spontaneous hepatic steatosis, and hepatocellular damage over time. However, it is unknown whether Acox1 modulates inflammation relevant to NAFLD pathogenesis or if Acox1-associated metabolic and inflammatory derangements uncover and accelerate potential for NAFLD progression...
March 22, 2018: JCI Insight
https://www.readbyqxmd.com/read/29483867/ethnopharmacological-approaches-for-dementia-therapy-and-significance-of-natural-products-and-herbal-drugs
#18
REVIEW
Devesh Tewari, Adrian M Stankiewicz, Andrei Mocan, Archana N Sah, Nikolay T Tzvetkov, Lukasz Huminiecki, Jarosław O Horbańczuk, Atanas G Atanasov
Dementia is a clinical syndrome wherein gradual decline of mental and cognitive capabilities of an afflicted person takes place. Dementia is associated with various risk factors and conditions such as insufficient cerebral blood supply, toxin exposure, mitochondrial dysfunction, oxidative damage, and often coexisting with some neurodegenerative disorders such as Alzheimer's disease (AD), Huntington's disease (HD), and Parkinson's disease (PD). Although there are well-established (semi-)synthetic drugs currently used for the management of AD and AD-associated dementia, most of them have several adverse effects...
2018: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29480778/using-structural-analysis-to-inform-peer-support-arrangements-for-high-school-students-with-severe-disabilities
#19
Heartley B Huber, Erik W Carter, Sarah E Lopano, Kristen C Stankiewicz
We examined the effects of peer support arrangements as an alternative to exclusive direct support from paraprofessionals for three high school students with severe disabilities in general education classrooms. We also explored the use of structural analysis as a data-based approach for further refining the interventions to enhance their impact in particular classrooms. Peer support arrangements were associated with substantial increases in social outcomes; academic engagement maintained or improved modestly for all participants...
March 2018: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29474920/a-mild-pum1-mutation-is-associated-with-adult-onset-ataxia-whereas-haploinsufficiency-causes-developmental-delay-and-seizures
#20
Vincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, Li Wang, Carolyn J Adamski, Amanda Koire, Lauren See, Chun-An Chen, Christian P Schaaf, Jill A Rosenfeld, Jessica A Panzer, Ute Moog, Shuang Hao, Ann Bye, Edwin P Kirk, Pawel Stankiewicz, Amy M Breman, Arran McBride, Tejaswi Kandula, Holly A Dubbs, Rebecca Macintosh, Michael Cardamone, Ying Zhu, Kevin Ying, Kerith-Rae Dias, Megan T Cho, Lindsay B Henderson, Berivan Baskin, Paula Morris, Jiang Tao, Mark J Cowley, Marcel E Dinger, Tony Roscioli, Oana Caluseriu, Oksana Suchowersky, Rani K Sachdev, Olivier Lichtarge, Jianrong Tang, Kym M Boycott, J Lloyd Holder, Huda Y Zoghbi
Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type protein, Ataxin1, caused by haploinsufficiency of its repressor, the RNA-binding protein Pumilio1 (PUM1), also causes neurodegeneration in mice. We therefore searched for human patients with PUM1 mutations. We identified eleven individuals with either PUM1 deletions or de novo missense variants who suffer a developmental syndrome (Pumilio1-associated developmental disability, ataxia, and seizure; PADDAS)...
February 22, 2018: Cell
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